Evaluation of Single Nucleotide Polymorphisms (SNPs) in Patients With and Without Diabetic Macular Edema

October 5, 2017 updated by: National Eye Institute (NEI)

Background:

- Diabetic macular edema (DME) is a common condition in people with diabetes. DME occurs when blood vessels in the eye leak fluid, resulting in swelling inside the back of the eye and progressive vision loss. Research has shown that good blood sugar control can reduce the risk and severity of DME. However, not all diabetic patients with poor blood sugar control develop DME, and some patients develop DME despite excellent blood sugar control. This suggests that other factors, such as genes or inherited traits, may predispose or protect a diabetic patient from developing DME.

Objectives:

- To investigate genetic factors that may influence the development of diabetic macular edema.

Eligibility:

- Individuals at least 18 years of age who have type 2 diabetes, with or without diabetic macular edema.

Design:

  • The study will require one visit to the National Institutes of Health eye clinic.
  • Participants will be screened with a medical history and basic eye examination. Individuals who have certain eye diseases other than DME may not be allowed to enroll in the study.
  • Participants will provide a blood sample, and will receive fluorescein angiography (an injection of fluorescein dye, after which a camera will take pictures of the dye as it flows through the blood vessels in the eye).
  • No treatment will be provided as part of this protocol.

Study Overview

Status

Terminated

Conditions

Detailed Description

Objective:

The objective of this study is to test the hypothesis that genetic polymorphisms of vascular endothelial growth factor (VEGF), erythropoietin (EPO), endothelin-1 (EDN1) and receptor for advanced glycation end product (RAGE) genes are associated with the development of diabetic macular edema (DME).

Study Population:

Two hundred case participants with DME and 200 diabetic controls without DME will be enrolled.

Design:

This is a longitudinal, genetic association study evaluating whether single nucleotide polymorphisms (SNPs) in VEGF, EPO, EDN1 and RAGE genes affect the development and progression of DME. All participants will provide a blood sample, undergo an eye examination, optical coherence tomography (OCT) and fluorescein angiography (FA) and discuss their medical, family and social history. Case participants with DME and diabetic control participants without DME will be allowed to receive standard-of-care treatment at the NEI under this protocol.

Outcome Measures:

The primary outcome variable is the genotype frequency of SNPs in the above specific genes of DME and control participants. Secondary outcomes are serum levels of VEGF, EPO, EDN1 and AGE, plasma biomarkers such as mRNA and ophthalmic measurements (visual acuity and imaging results such as FA and OCT results). The longitudinal outcome measure includes investigating associations between the studied genetic polymorphisms and the long-term response to standard-of-care therapy.

Study Type

Observational

Enrollment (Actual)

68

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • INCLUSION CRITERIA:

All participants must meet the following criteria:

Participant is diagnosed with type 2 diabetes prior to enrollment.

Participant must understand and sign this protocol s informed consent document and agree to provide a blood sample for analysis.

Participant must be 18 years of age or older.<TAB>

DME Participants (cases):

Participant is diagnosed with active DME defined by fluorescein leakage associated with either central retinal thickness greater than 260 microns on spectral domain OCT or cystic changes present on OCT.

OR

Participant has evidence of focal laser scars indicative of prior DME Investigators will verify the laser therapy was performed for DME via medical records, fluorescein angiograms or photographs.

Non-DME Participants (controls)

Participant has no evidence of DME defined fluorescein leakage associated with either central retinal thickness greater than 260 microns on spectral domain OCT or cystic changes present on OCT.

Participant has no evidence of focal laser scars indicative of prior DME.

EXCLUSION CRITERIA:

Participant has another retinal disease that may confound the evaluation of the DME. Examples include vein occlusions, uveitic macular edema or neovascular age-related macular degeneration.

Participant has opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate dilated examination.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Genotype frequency of SNP in the study genes of DME participants and control participants.

Secondary Outcome Measures

Outcome Measure
Secondary outcomes are ophthalmic measurements, including visual acuity, FA and OCT data, to investigate associations between detected genetic polymorphisms and response to conventional diabetic retinopathy treatment.

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Eye Institute (NEI)

Investigators

  • Principal Investigator: Catherine Meyerle, M.D., National Eye Institute (NEI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 7, 2010

Study Completion

August 7, 2013

Study Registration Dates

First Submitted

July 22, 2010

First Submitted That Met QC Criteria

July 22, 2010

First Posted (Estimate)

July 23, 2010

Study Record Updates

Last Update Posted (Actual)

October 6, 2017

Last Update Submitted That Met QC Criteria

October 5, 2017

Last Verified

August 7, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 100169
  • 10-EI-0169

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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